Causative Gene Discovery for Sheep Inherited Disorders

Chondrodysplasia, inherited rickets and lower motor neuron disease are three sheep disorders in New Zealand that have been recently shown to be inherited apparently in a recessive manner. To discover the causative genes involved in the above diseases, around 50,000 genetic differences called single nucleotide polymorphisms (SNPs) throughout the genome were tested to define homozygous regions, one of which should harbor the causative mutation. Fine mapping of these regions for each disease was performed by discovering new SNPs located on candidate genes in these regions. To date, responsible mutations were successfully identified for inherited rickets and lower motor neuron disease. Our findings will benefit sheep breeding practices by providing a tool that can be used to avoid atrisk mating and may benefit science by providing animal disease models for human studies.